A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6748754



Internal ID9653833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:42277439..42277922hg38UCSC Ensembl
Outerchr1:42743110..42743593hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747530
Supporting Variants
SamplesSSM008
Known GenesFOXJ3
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6748754
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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